Glycogen Storage Disease, Type V(Mcardle disease) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | PFKM/5213 | phosphofructokinase, muscle | 12q13.11 | Chr12, NC_000012.12 (48105353..48146404) |
41052 nt | 32 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PYGM/5837 | glycogen phosphorylase, muscle associated | 11q13.1 | Chr11, NC_000011.10 (64746389..64760715, complement) |
14327 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | PYGL/5836 | glycogen phosphorylase L | 14q22.1 | Chr14, NC_000014.9 (50905217..50944483, complement) |
39267 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities